(used for variant description)
(last modified June 9, 2020)
This file was created to facilitate the description of sequence variants on transcript NM_001195470.1 in the SATB1 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_027814.2, covering SATB1 transcript NM_001195470.1.
(upstream sequence)
. . . . . g.18491
tttctcgctcgctcccgttccccggacgcggcggatgagccggccccgctgggga c.-1681
. . . . . . g.18551
aggctccgggcggcggcgggcggccgggaggaggctgcgtgctcggggctggggctgcga c.-1621
. . . . . . g.18611
gcggggtgattttgtattaaaatgaggaggaggaagaagaggcacccacagcggcagcgg c.-1561
. . . . . . g.18671
cggcggcggcggcagcagcagcaggagcagcggcggagagggctgcagcccgggcggacg c.-1501
. . . . . . g.18731
cgcggagccgagcggggcacggcggcggcagcgacagcggccgggatgagtcaactaata c.-1441
. . . . . . g.18791
atttaatgggggcagagacggcagcgaggggtagagctagcgagggagagagcgagagaa c.-1381
. . . . . . g.18851
gcagccccgtccggggactcgcgctcacactcacgcacacacacaaacacacacacacct c.-1321
. . . . . . g.18911
ctccctgtgccacccagcaacacccggcctcgtcacaacaacaacagccgcggccgccct c.-1261
. . . . . . g.18971
ctatcctgcccgggggcccagccgaaagccagggcgactctagaggacgctgcccgcccc c.-1201
. . . . . . g.19031
cctctttcatttcgggaaactcctgatcagttttgtcggggtttctgggtttcttttccc c.-1141
. . . . . . g.19091
ccaaagtcctagtgccattgtggtgctcgttgtttacctcggactctggacgagtgagag c.-1081
. . . . . . g.19151
cttggcgactttttggggggagggggcggggagtttgtcgctgcctaggcggtggaggtg c.-1021
. . . . . . g.19211
gctgggggtgccttctgatcttcctcctcctccccctccccccgaacctcttctctcctc c.-961
. . . . . . g.19271
acttgctgggaccccagacgctcacagccccgcgtcaatgggcagggagagggtccttgc c.-901
. . . . . . g.19331
ggctgttgtcagcgagggcagaatcaaaagtggcattttagtgcctttccggggcttttc c.-841
. . . . . . g.19391
tcgcgaccccctgccccccaccctcgctgtcccccgctagatgccctcgttgggggtgcg c.-781
. . . . . . g.19451
aggctgtggggaaaagtttaaggtttgttaatattagtcgcgattgttggcgaggggggt c.-721
. . . . . . g.19511
gggggtgattggaagggaggcgaggtggccttcccaatgcgcgttattcggggttattga c.-661
. . . . . . g.19571
agaataatattgcaagtgacagccagaagtagactttctgtcctcacaccgaagaacccg c.-601
. . . . . . g.19631
agtgagcaggagggagggagagacgcgaagagaccttttttcctttttggagaccttgtc c.-541
. . . . . . g.19691
cgcagtgatttttttttttttaagagaatcctcagtcaccacgtcgtttccccagcacca c.-481
. . . . . . g.19751
tcacagtgtacagctcataacgggttttgctttgtttttacgatttccccccaacgaatc c.-421
. . . . . . g.19811
acttgtcagatcaattttatcttcttcctcctccctgcttcccactctcccctcctcccc c.-361
. . . . . . g.19871
atcgcaaaccctgttctctgaggttagacattttacaaacccctatatgttggttttcga c.-301
. . . . . . g.19931
attgtgattttttttttaaacccctttctcatggctactcttctagacgtttatttctgc c.-241
. . . . . . g.19991
ccttcccccgcttaggggggcgggggtaggggaaaggaaaataatacaatttcaggggaa c.-181
. . . . . . g.20051
gtcgccttcaggtctgctgcttttttatttttttttttttaattaaaaaaaaaaaggaca c.-121
. . . . . . g.20111
tagaaaacatcagtcttgaacttctcttcaagaacccgggctgcaaaggaaatctccttt c.-61
. . . . | 02 . . g.22806
gtttttgttatttatgtgctgtcaagttttgaagtg | gtgatctttagacagtgactgagt c.-1
. . . . . . g.22866
ATGGATCATTTGAACGAGGCAACTCAGGGGAAAGAACATTCAGAAATGTCTAACAATGTG c.60
M D H L N E A T Q G K E H S E M S N N V p.20
. . . . . . g.22926
AGTGATCCGAAGGGTCCACCAGCCAAGATTGCCCGCCTGGAGCAGAACGGGAGCCCGCTA c.120
S D P K G P P A K I A R L E Q N G S P L p.40
. . . . . . g.22986
GGAAGAGGAAGGCTTGGGAGTACAGGTGCAAAAATGCAGGGAGTGCCTTTAAAACACTCG c.180
G R G R L G S T G A K M Q G V P L K H S p.60
. . . | 03 . . . g.26724
GGCCATCTGATGAAAACCAACCTTAGGAAAG | GAACCATGCTGCCAGTTTTCTGTGTGGTG c.240
G H L M K T N L R K G | T M L P V F C V V p.80
. . . . . . g.26784
GAACATTATGAAAACGCCATTGAATATGATTGCAAGGAGGAGCATGCAGAATTTGTGCTG c.300
E H Y E N A I E Y D C K E E H A E F V L p.100
. . . . . . g.26844
GTGAGAAAGGATATGCTTTTCAACCAGCTGATCGAAATGGCATTGCTGTCTCTAGGTTAT c.360
V R K D M L F N Q L I E M A L L S L G Y p.120
. . | 04 . . . g.27672
TCACATAGCTCTGCTGCCCAGGCCAAAG | GGCTAATCCAGGTTGGAAAGTGGAATCCAGTT c.420
S H S S A A Q A K G | L I Q V G K W N P V p.140
. . . . . . g.27732
CCACTGTCTTACGTGACAGATGCCCCTGATGCTACAGTAGCAGATATGCTTCAAGATGTG c.480
P L S Y V T D A P D A T V A D M L Q D V p.160
. . . | 05 . . . g.28564
TATCATGTGGTCACATTGAAAATTCAGTTACACAG | TTGCCCCAAACTAGAAGACTTGCCT c.540
Y H V V T L K I Q L H S | C P K L E D L P p.180
. . . . . . g.28624
CCCGAACAATGGTCGCACACCACAGTGAGGAATGCTCTGAAGGACTTACTGAAAGATATG c.600
P E Q W S H T T V R N A L K D L L K D M p.200
. . . | 06 . . g.46504
AATCAGAGTTCATTGGCCAAGGAGTGCCCCCTTTCACAG | AGTATGATTTCTTCCATTGTG c.660
N Q S S L A K E C P L S Q | S M I S S I V p.220
. . . . . . g.46564
AACAGTACTTACTATGCAAATGTCTCAGCAGCAAAATGTCAAGAATTTGGAAGGTGGTAC c.720
N S T Y Y A N V S A A K C Q E F G R W Y p.240
. . . | 07 . . . g.48886
AAACATTTCAAGAAGACAAAAGATATGATGG | TTGAAATGGATAGTCTTTCTGAGCTATCC c.780
K H F K K T K D M M V | E M D S L S E L S p.260
. . . . . . g.48946
CAGCAAGGCGCCAATCATGTCAATTTTGGCCAGCAACCAGTTCCAGGGAACACAGCCGAG c.840
Q Q G A N H V N F G Q Q P V P G N T A E p.280
. . . . . . g.49006
CAGCCTCCATCCCCTGCGCAGCTCTCCCATGGCAGCCAGCCCTCTGTCCGGACACCTCTT c.900
Q P P S P A Q L S H G S Q P S V R T P L p.300
. . . . . . g.49066
CCAAACCTGCACCCTGGGCTCGTATCAACACCTATCAGTCCTCAATTGGTCAACCAGCAG c.960
P N L H P G L V S T P I S P Q L V N Q Q p.320
. . . . . . g.49126
CTGGTGATGGCTCAGCTGCTGAACCAGCAGTATGCAGTGAATAGACTTTTAGCCCAGCAG c.1020
L V M A Q L L N Q Q Y A V N R L L A Q Q p.340
. . . . . . g.49186
TCCTTAAACCAACAATACTTGAACCACCCTCCCCCTGTCAGTAGATCTATGAATAAGCCT c.1080
S L N Q Q Y L N H P P P V S R S M N K P p.360
. . . . . . g.49246
TTGGAGCAACAGGTTTCGACCAACACAGAGGTGTCTTCCGAAATCTACCAGTGGGTACGC c.1140
L E Q Q V S T N T E V S S E I Y Q W V R p.380
. . . . . . g.49306
GATGAACTGAAACGAGCAGGAATCTCCCAGGCGGTATTTGCACGTGTGGCTTTTAACAGA c.1200
D E L K R A G I S Q A V F A R V A F N R p.400
| 08 . . . . . . g.57216
ACTCAG | GGCTTGCTTTCAGAAATCCTCCGAAAGGAAGAGGACCCCAAGACTGCATCCCAG c.1260
T Q | G L L S E I L R K E E D P K T A S Q p.420
. . . . . . g.57276
TCTTTGCTGGTAAACCTTCGGGCTATGCAGAATTTCTTGCAGTTACCGGAAGCTGAAAGA c.1320
S L L V N L R A M Q N F L Q L P E A E R p.440
. . . . . . g.57336
GACCGAATATACCAGGACGAAAGGGAAAGGAGCTTGAATGCTGCCTCGGCCATGGGTCCT c.1380
D R I Y Q D E R E R S L N A A S A M G P p.460
. . . | 09 . . g.65469
GCCCCCCTCATCAGCACACCACCCAGCCGTCCTCCCCAG | GTGAAAACAGCTACTATTGCC c.1440
A P L I S T P P S R P P Q | V K T A T I A p.480
. . . . . . g.65529
ACTGAAAGGAATGGGAAACCAGAGAACAATACCATGAACATTAATGCTTCCATTTATGAT c.1500
T E R N G K P E N N T M N I N A S I Y D p.500
. . . . . . g.65589
GAGATTCAGCAGGAAATGAAGCGTGCTAAAGTGTCTCAAGCACTGTTTGCAAAGGTTGCA c.1560
E I Q Q E M K R A K V S Q A L F A K V A p.520
. | 10 . . . . . g.91623
GCAACCAAAAGCCAG | GGATGGTTGTGCGAGCTGTTACGCTGGAAAGAAGATCCTTCTCCA c.1620
A T K S Q | G W L C E L L R W K E D P S P p.540
. . . . . . g.91683
GAAAACAGAACCCTGTGGGAGAACCTCTCCATGATCCGAAGGTTCCTCAGTCTTCCTCAG c.1680
E N R T L W E N L S M I R R F L S L P Q p.560
. . . . . . g.91743
CCAGAACGTGATGCCATTTATGAACAGGAGAGCAACGCGGTGCATCACCATGGCGACAGG c.1740
P E R D A I Y E Q E S N A V H H H G D R p.580
. . . | 11 . . g.92386
CCGCCCCACATTATCCATGTTCCAGCAGAGCAGATTCAG | AGCCCCTCTCCCACCACCCTT c.1800
P P H I I H V P A E Q I Q | S P S P T T L p.600
. . . . . . g.92446
GGGAAAGGAGAGTCTAGAGGCGTTTTCTTACCAGGCCTGCCGACCCCTGCACCATGGCTC c.1860
G K G E S R G V F L P G L P T P A P W L p.620
. | 12 . . . . . g.94136
GGTGCTGCTCCTCAG | CAACAGCAGCAGCAACAGCAACAGCAGCAGCAGCAGCAGCAGGCA c.1920
G A A P Q | Q Q Q Q Q Q Q Q Q Q Q Q Q Q A p.640
. . . . . . g.94196
CCGCCGCCTCCACAGCCACAGCAGCAGCCACAGACAGGCCCTCGGCTCCCCCCACGGCAA c.1980
P P P P Q P Q Q Q P Q T G P R L P P R Q p.660
. . . . . . g.94256
CCCACGGTGGCCTCTCCAGCAGAGTCAGATGAGGAAAACCGACAGAAGACCCGGCCACGA c.2040
P T V A S P A E S D E E N R Q K T R P R p.680
. . . . . . g.94316
ACAAAAATTTCAGTGGAAGCCTTGGGAATCCTCCAGAGTTTCATACAAGACGTGGGCCTG c.2100
T K I S V E A L G I L Q S F I Q D V G L p.700
. . . . . . g.94376
TACCCTGACGAAGAGGCCATCCAGACTCTGTCTGCCCAGCTCGACCTTCCCAAGTACACC c.2160
Y P D E E A I Q T L S A Q L D L P K Y T p.720
. . . . . . g.94436
ATCATCAAGTTCTTTCAGAACCAGCGGTACTATCTCAAGCACCACGGCAAACTGAAGGAC c.2220
I I K F F Q N Q R Y Y L K H H G K L K D p.740
. . . . . . g.94496
AATTCCGGTTTAGAGGTCGATGTGGCAGAATATAAAGAAGAGGAGCTGCTGAAGGATTTG c.2280
N S G L E V D V A E Y K E E E L L K D L p.760
. . . . . . g.94556
GAAGAGAGTGTCCAAGATAAAAATACTAACACCCTTTTTTCAGTGAAACTAGAAGAAGAG c.2340
E E S V Q D K N T N T L F S V K L E E E p.780
. . . . g.94604
CTGTCAGTGGAAGGAAACACAGACATTAATACTGATTTGAAAGACTGA c.2388
L S V E G N T D I N T D L K D X p.795
. . . . . . g.94664
gataaaagtatttgtttcgttcaacagtgccactggtatttactaacaaaatgaaaagtc c.*60
. . . . . . g.94724
caccttgtcttctctcagaaaacctttgttgttcattgtttggccaatgaatcttcaaaa c.*120
. . . . . . g.94784
acttgcacaaacagaaaagttggaaaaggataatacagactgcactaaatgttttcctct c.*180
. . . . . . g.94844
gttttacaaactgcttggcagccccaggtgaagcatcaaggattgtttggtattaaaatt c.*240
. . . . . . g.94904
tgtgttcacgggatgcaccaaagtgtgtaccccgtaagcatgaaaccagtgttttttgtt c.*300
. . . . . . g.94964
ttttttttagttcttattccggagcctcaaacaagcattataccttctgtgattatgatt c.*360
. . . . . . g.95024
tcctctcctataattatttctgtagcactccacactgatctttggaaacttgccccttat c.*420
. . . . . . g.95084
ttaaaaaaaaaaaagaaaaaaaagagtttgttactctattgtatgttacaaaagaactat c.*480
. . . . . . g.95144
agactgtggaatgcagtttaaagatgacatatgccaacaaatgccttgtattatatggca c.*540
. . . . . . g.95204
ctgccgtaattcaaatttgtttttattttggaaataaaagttcactgtacttttttttca c.*600
. . . . . . g.95264
ttctcattgttacatgattttttaaaaaaaggaaaagaaaatgtgaaacacaatttagtc c.*660
. . . . . . g.95324
ctcattatttatttgtagatcctgcagcatcatgttgtaattaattttttggaagtttcc c.*720
. . . . . . g.95384
gttaaatgtaatattgcttctcttgttaccatactgattcttttctatttataaatgtat c.*780
. . . . . . g.95444
tttgatgggcagtaaaacaaagtgtcttaaaagttttaaatagagaaaatgtgctttaca c.*840
. . . . . . g.95504
cagttgcctataaaaagtgctctatgttatccaagcaattcatactataagcttcactct c.*900
. . . . . . g.95564
tattgttgtatgcaatttttactatcatgcaaataagcttaggtaaataaaactaataga c.*960
. . . . . . g.95624
tcaccttagaaaattatgcaattaatgtgaaaataattgatgtttgcaatgtgtcttcct c.*1020
. . . . . . g.95684
ttggtttacaatcaattttaaagctacatctgtataaaatttctgtataaaggtgtattt c.*1080
. . . . . . g.95744
cttttttatgagtttatggctatgaaaacagctattttgttacagctggctgtttttata c.*1140
. . . . . . g.95804
agtgtatcacaattttctttatgcagaaatgttctgactaggagtggttattgactgtaa c.*1200
. . . . . . g.95864
ctacacaattaaaattgtttgtatcgtatgacatggtagggtttgtctgcttatgtgaag c.*1260
. . . . . . g.95924
taactaaaggagtcaaaggatggccctctcatttaggtgcatgttaataacttgttattt c.*1320
. . . . . . g.95984
cactgattttaaaaagagcaattgacaagttacttgaaacactgtaaatttaaatcacaa c.*1380
. . . . . . g.96044
acacatgctcatttttaaataggtatgaaatttcacaatgaaaataacctgtttggttaa c.*1440
. . . . . . g.96104
cattttgcttaataagtagagataggatggtcaaaagactctccgacaaaaacaaatcca c.*1500
. . g.96133
gtctctagcagttatgttgttagaatgga c.*1529
(downstream sequence)
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